Sodium channelopathies: do we really understand what's going on?
PG Postema, A Mosterd, N Hofman… - Journal of …, 2011 - Wiley Online Library
PG Postema, A Mosterd, N Hofman, M Alders, AAM Wilde
Journal of cardiovascular electrophysiology, 2011•Wiley Online LibrarySodium Channelopathies: Do We Really Understand? Long‐QT syndrome, Brugada
syndrome, and conduction disease may be caused by mutations in the cardiac sodium
channel gene SCN5A, and from the ECG one can already presume either a gain‐or a loss‐
of‐function defect. We describe a family harboring 2 SCN5A mutations: the ΔKPQ mutation,
the “classical” gain‐of‐function mutation associated with Long‐QT syndrome, and the
I1660V mutation, a loss‐of‐function mutation associated with Brugada syndrome. However …
syndrome, and conduction disease may be caused by mutations in the cardiac sodium
channel gene SCN5A, and from the ECG one can already presume either a gain‐or a loss‐
of‐function defect. We describe a family harboring 2 SCN5A mutations: the ΔKPQ mutation,
the “classical” gain‐of‐function mutation associated with Long‐QT syndrome, and the
I1660V mutation, a loss‐of‐function mutation associated with Brugada syndrome. However …
Sodium Channelopathies: Do We Really Understand? Long‐QT syndrome, Brugada syndrome, and conduction disease may be caused by mutations in the cardiac sodium channel gene SCN5A, and from the ECG one can already presume either a gain‐ or a loss‐of‐function defect. We describe a family harboring 2 SCN5A mutations: the ΔKPQ mutation, the “classical” gain‐of‐function mutation associated with Long‐QT syndrome, and the I1660V mutation, a loss‐of‐function mutation associated with Brugada syndrome. However, we were surprised by the result of genetic testing in this family. One son who carried the ΔKPQ mutation but not the I1660V mutation did not show the expected Long‐QT phenotype but, unexpectedly, showed a conduction disease/Brugada phenotype. (J Cardiovasc Electrophysiol, Vol. 22, pp. 590‐593 May 2011)
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